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NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 12, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002418574.2

Allele description [Variation Report for NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs)]

NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs)
HGVS:
  • NC_000015.10:g.48412736CA[1]
  • NC_000015.10:g.48412736_48412737CA[1]
  • NG_008805.2:g.238051GT[1]
  • NM_000138.5:c.8059_8060delMANE SELECT
  • NP_000129.3:p.Val2687fs
  • LRG_778t1:c.8059_8060del
  • LRG_778:g.238051GT[1]
  • NC_000015.9:g.48704932_48704933del
  • NC_000015.9:g.48704933CA[1]
  • NM_000138.4:c.8059_8060delGT
Protein change:
V2687fs
Links:
dbSNP: rs2042873946
NCBI 1000 Genomes Browser:
rs2042873946
Molecular consequence:
  • NM_000138.5:c.8059_8060del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002678437Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jul 12, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Aortic dilation, genetic testing, and associated diagnoses.

Zarate YA, Sellars E, Lepard T, Tang X, Collins RT 2nd.

Genet Med. 2016 Apr;18(4):356-63. doi: 10.1038/gim.2015.88. Epub 2015 Jul 2.

PubMed [citation]
PMID:
26133393

Details of each submission

From Ambry Genetics, SCV002678437.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.8059_8060delGT pathogenic mutation, located in coding exon 64 of the FBN1 gene, results from a deletion of two nucleotides between nucleotide positions 8059 and 8060, causing a translational frameshift with a predicted alternate stop codon (p.V2687Ffs*17). A similar variant, reported as c.8056_8057delTG, has been detected in an individual with aortic dilation and systemic features of Marfan syndrome (Zarate YA et al. Genet Med. 2016 Apr;18(4):356-63). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024